A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647713



Internal ID7034453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37595129..37597221hg38UCSC Ensembl
Innerchr22:37595130..37597220hg38UCSC Ensembl
Outerchr22:37595128..37597222hg38UCSC Ensembl
chr22:37991136..37993228hg19UCSC Ensembl
Innerchr22:37991137..37993227hg19UCSC Ensembl
Outerchr22:37991135..37993229hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382093
hg192093
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421168, essv16421167
SamplesHG01432, HG01556
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647713
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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